Submissions for variant NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val)

gnomAD frequency: 0.00046  dbSNP: rs150328852

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194029	SCV000247753	likely benign	not specified	2015-03-31	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000194029	SCV000297064	uncertain significance	not specified	2015-08-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001495318	SCV001699998	likely benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001495318	SCV001909185	benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001495318	SCV002585354	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	KMT2A: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003927785	SCV004740105	likely benign	KMT2A-related disorder	2022-10-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).